Limb disordersGene: PNPLA6
Comment when marking as ready: No evidence that this gene is associated with limb disorders.
Created: 29 Nov 2018, 1:23 p.m.
Checked with VCGS. They were not sure why this gene had been included in their list of polydactyly genes. So keep red rating.
Created: 29 Nov 2018, 1:22 p.m.
No apparent association with Limb disorders in OMIM, G2P or in the literature. Contact VCGS for evidence the presence of this gene on the panel.
Created: 7 Nov 2018, 1:26 p.m.
Mode of inheritance
Sarah Leigh: No apparent association with L
Gene: pnpla6 has been classified as Red List (Low Evidence).
Source Expert Review Red was added to PNPLA6. Mode of inheritance for gene PNPLA6 was changed from to Unknown
PNPLA6 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services
PNPLA6 was created by Ellen McDonagh